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Ophthalmology

Retinal Pattern Dystrophy

Retinal pattern dystrophies represent several diseases that involve a variety of patterns of pigment deposition in the retinal pigment epithelium (RPE) of the macula. Given the RPE's critical role in waste removal, many pattern dystrophies feature waste accumulation primarily of lipofuscin. Typically, these dystrophies are associated with a good visual prognosis; however, there remains a risk for progressive central vision loss. Pattern dystrophies are usually inherited, often presenting in the

v1 · Reviewed Nov 7, 2026 by Automated Clinical Reviewer (Strict Verbatim v1)
  • however, there remains a risk for progressive central vision loss.
  • Patients typically remain asymptomatic until the fourth to fifth decade of life, when they may start to notice changes in central vision.
  • The appearance of pattern dystrophies may lead to misdiagnosis as age-related macular degeneration (AMD), especially given that later stages of pattern dystrophies may resemble AMD and pigment deposits can resemble drusen.
  • On rare occasions, patients may report a history of significant vision loss secondary to complications from pattern dystrophies such as choroidal neovascularization.
  • Rarely can patients experience complications such as choroidal neovascularization or macular holes, making it critically important to seek medical care if experiencing vision loss.
  • To establish a clear diagnosis of retinal pattern dystrophy, it is important to appropriately work up and follow this condition.
  • The disease may present diagnostic confusion when presenting in the elderly and is often confused for age-related macular degeneration.
  • Distinguishing pattern dystrophies from AMD requires further workup and follow-up.
  • On physical exam, the fundus exam will reveal a characteristic pattern of pigment deposition in the RPE.
  • Imaging modalities such as fluorescein angiography (FA), fundus autofluorescence (FAF), EOG, and ERG may provide additional information to stage and define the pattern dystrophy; however, diagnosing pattern dystrophy is a clinical diagnosis.
  • On FA, these pigmented areas block fluorescence, and the central lesion is easily visible, distinguishing this dystrophy from others.
  • FAF will reveal areas of both increased and decreased autofluorescence corresponding to lipofuscin changes.
  • ERG and EOG will reveal mild changes; however, patients maintain normal vision.
  • Reticular dystrophy features a network of pigmented lines and knots in a fish net-like appearance in the RPE.
  • FA will reveal hypoflourescent segments surrounding areas of hyperfluorescence with normal choroidal vasculature.
  • Similar to butterfly-shaped pattern dystrophy, ERG and EOG are normal or minimally abnormal in reticular dystrophy.
  • Multifocal pattern dystrophy, resembling Stargardt or Fundus Flavimaculatus, demonstrates multiple irregular white-yellow flecks scattered throughout the macula, similar to the flecks seen in Stargardt disease.
  • FA is key in distinguishing between Stargardts and this pattern dystrophy, as in multifocal pattern dystrophy, there is no dark choroid.
  • Flecks are hyperfluorescent in both early and late stages.
  • Optical coherence tomography (OCT) will reveal the flecks as highly reflective areas of focal thickening.
  • Rare and advanced cases aside, multifocal dystrophy is distinct from Stargardts as it is not as visually devastating, features a distinct inheritance pattern (autosomal dominant), and there is the absence of a dark choroid on FA.
  • Adult-onset foveomacular vitelliform dystrophy (AFVD) is unique in that it is linked to mutations beyond the peripherin/RDS gene, such as mutations in the VMD2 gene.
  • On exam, it features bilateral, symmetric, round, gray-white lesions in the macula.
  • On FA, the vitelliform lesion will show hypofluorescence with an area of hyperfluorescence surrounding it, while FAF reveals various patterns, including autofluorescent patterns that are patchy, linear, ring-like, and others.
  • One way to distinguish AVFD from Best is that both EOG and ERG in AVFD are normal.
  • OCT is another imaging modality that allows for the visualization of vitelliform lesions that are located subretinally.
  • Some patients with multiple drusen may develop vitelliform exudative macular detachments, and this fluid blocks background fluorescence early and stains late on FA.
  • Fundus pulverulentus features a granular appearance and punctiform mottling of the RPE within the macula.
  • Areas of pigment mottling appear as areas of hypofluorescence on FA.
  • Fundus pulverulentus can be mistaken for age-related macular degeneration due to the RPE mottling; however, OCT imaging and follow-up reveal different disease courses.
  • There is no evidence-based treatment for the pigment deposition and lipofuscin accumulation seen in pattern dystrophies.
  • In cases of slowly progressive vision loss or the less common rapid loss, low vision therapy remains the most prominent option to maximize function.
  • The majority of patients will not require intervention or treatment and can be followed over time.
  • However, vision loss can be more rapid in some patients due to secondary complications from choroidal neovascularization and macular holes necessitating treatment with anti-VEGF injections and surgical hole repair, respectively.
  • PDT should be avoided as it may negatively impact vision in patients with pattern dystrophy, especially those with AVFD.
  • Additionally, a minority of patients may experience complications such as macular holes or choroidal neovascularization, necessitating treatment with vitrectomy or anti-vascular endothelial growth factor injections.
  • To establish a clear diagnosis of retinal pattern dystrophy, it is important to appropriately work up and follow this condition.
  • Distinguishing pattern dystrophies from AMD requires further workup and follow-up.
  • Patients can be reassured that pattern dystrophies do not typically negatively impact their vision significantly, and progression is gradual.
  • The majority of patients will not require intervention or treatment and can be followed over time.
  • Rarely may patients experience complications secondary to choroidal neovascularization, which is responsive to anti-VEGF therapy.
  • Although most patients will maintain good vision and the disease is slowly progressive, there still needs to be follow-up and a full workup to ensure there is no concurrent AMD.
  • Some may experience a more rapid course of vision loss, requiring low vision therapy.
  • Rarely can patients experience complications such as choroidal neovascularization or macular holes, making it critically important to seek medical care if experiencing vision loss.
  • It is important to refer patients suspected of retinal pattern dystrophy to an ophthalmologist for further evaluation and testing so that the diagnosis can be confirmed, the patient appropriately followed, age-related macular degeneration ruled out, and complications managed should they arise.
  • Due to the complexity of diagnosis and potentially devastating consequences of complications such as choroidal neovascularization, the healthcare professional's consultation with ophthalmology should be done promptly in cases of suspected pattern dystrophy.
  • review
    Retinal Pattern Dystrophy. StatPearls [Internet] — Harris Ahmed, David I. Sierpina, Leila Khazaeni — StatPearls Publishing, 2023

Decision support only. Verify against local protocols and current labeling. Source: www.ncbi.nlm.nih.gov